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Variant (rsID / SNP)

rs147376687

COL4A4

rs147376687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL4A4. Location: chromosome 2, position 227,890,504. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL4A4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:227890504
Cytoband
2q36.3
HGVS
NM_000092.5(COL4A4):c.4090+14T>C
Allele change
Silent

Associated conditions / phenotypes

Alport syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.